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CTCCTTGTTAATGACGTACACACGG[C/T]GGAGGCTGCGGGGACAGGGCACGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 615776 MIM: 156790 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CROCC PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CROCC - ciliary rootlet coiled-coil, rootletin | ||||||
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There are no transcripts associated with this gene. |
MFAP2 - microfibrillar associated protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135247.1 | 491 | Missense Mutation | CAC,CGC | H,R 126 | NP_001128719.1 | |
NM_001135248.1 | 491 | Missense Mutation | CAC,CGC | H,R 126 | NP_001128720.1 | |
NM_002403.3 | 491 | Missense Mutation | CAC,CGC | H,R 127 | NP_002394.1 | |
NM_017459.2 | 491 | Missense Mutation | CAC,CGC | H,R 127 | NP_059453.1 | |
XM_011541476.2 | 491 | Missense Mutation | CAC,CGC | H,R 127 | XP_011539778.1 |